rs5030856

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(A;G)	3	Carrier of a non-phenylketonuria hyperphenylalaninemia allele
(G;G)	5.9	Non-phenylketonuria hyperphenylalaninemia genotype

Reference

GRCh38 38.1/142

Chromosome

12

Position

102843676

Gene

PAH

is a	snp
is	mentioned by
dbSNP	rs5030856
dbSNP (classic)	rs5030856
ClinGen	rs5030856
ebi	rs5030856
HLI	rs5030856
Exac	rs5030856
Gnomad	rs5030856
Varsome	rs5030856
LitVar	rs5030856
Map	rs5030856
PheGenI	rs5030856
Biobank	rs5030856
1000 genomes	rs5030856
hgdp	rs5030856
ensembl	rs5030856
geneview	rs5030856
scholar	rs5030856
google	rs5030856
pharmgkb	rs5030856
gwascentral	rs5030856
openSNP	rs5030856
23andMe	rs5030856
SNPshot	rs5030856
SNPdbe	rs5030856
MSV3d	rs5030856
GWAS Ctlg	rs5030856

Max Magnitude

5.9

aka c.1169A>G (p.Glu390Gly)

FTDNA & MyHeritage name: VG12S8222

OMIM	612349
Desc
Variant	0051
Related	also

ClinVar
Risk	Rs5030856(G;G)
Alt	Rs5030856(G;G)
Reference	Rs5030856(A;A)
Significance	Other
Disease	Hyperphenylalaninemia Phenylketonuria not provided
Variation	info
Gene	PAH
CLNDBN	Hyperphenylalaninemia, non-pku Phenylketonuria not provided
Reversed	1
HGVS	NC_000012.11:g.103237454T>C
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000656.4, RCV000000657.7, RCV000078503.6,